Rare Diseases

Current bibliography for experts

All Publications

Article summaries on Rare Diseases are listed according to publication date.

MPS

A Novel Missense Mutation (c.965C>T, p.Ala322Val) in the GALNS Gene: A Severe MPS IVA Case

2025-02-01

A newly identified c.965C>T (p.Ala322Val) missense mutation in the GALNS gene has been associated with the severe form of Morquio syndrome (MPS IVA); the diagnosis was confirmed in a 3-year-old patient with skeletal abnormalities through whole exome sequencing, and early enzyme replacement therapy has been recommended to slow disease progression.

FABRY

Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro

2025-01-22

This study identifies a significant mutation (c.146G>A) in exon 1 of the GLA gene in a female Fabry disease patient. Bioinformatic predictions and biochemical analyses revealed that this variant significantly reduced the stability and activity of α-galactosidase A, confirming its pathogenicity. Using an adenine base-editing technique, the mutation was corrected in vitro. The study not only identified a novel variant but also demonstrated the potential of the CRISPR/Cas9 system.

GAUCHER DISEASE

Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients

2024-08-06

This study aims to identify protein biomarkers for the early detection of skeletal complications in patients with Type 1 Gaucher disease using machine learning. The research identified 18 potential biomarkers, emphasizing that some of these can be measured through blood tests. The goal is to develop new tools for clinical decision support systems using machine learning and systems biology techniques.

POMPE

Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS

2023-08-17

This study investigates a newly developed filter paper based-urine collection kit to facilitate specimen shipment, and liquid chromatography coupled with high-resolution mass spectrometry (LC-HRMS) analysis to determine Glc4 and creatinine in dried urine on filter paper.

POMPE

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

2023-08-04

This is the first study to analyze the genotype and phenotype of Malaysian infantile-onset Pompe disease (IOPD) patients, and has identified the c.1935C > A p.(D645E) as the most common mutation.

FABRY

Low skeletal muscle mass as an early sign in children with fabry disease

2023-07-21

Low skeletal muscle mass is a common early symptom in children with Fabry disease (FD), suggesting that skeletal muscle is significantly affected in the early stages of FD.

PHEX

X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant

2023-07-17

This article presents a family with X-linked hypophosphatemia (XLH) who harbors the exon 13-15 duplication but does not carry the 3'UTR variant.

XLSD

Pilot study of newborn screening for six lysosomal diseases in Brazil

2023-07-13

This study indicates that the use of enzyme assay as the first-tier test gives an acceptably low number of positive results that requires second/third tier testing.

FABRY

Novel Golden Lipid Nanoparticles with Small Interference Ribonucleic Acid for Substrate Reduction Therapy in Fabry Disease

2023-07-12

The results of this study highlight the potential of the new siRNA-golden LNP system as a promising nanomedicine to address Fabry disease (FD) by specific SRT.

FABRY

A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

2023-06-10

This article reports a rare familial case of inherited cardiac Fabry disease (FD) associated with a novel double mutation in the GLA gene: W24R and N419D.

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Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution covers all steps from the transfer of the biologic sample until the production of the genetic analysis report